title: [Choreo-acanthocytosis].
abstract: We report a case of choreo-acanthocytosis in a 33 year-old man with mild chorea of the limbs but no involuntary movements of the face, areflexia, epilepsy and personality changes. Acanthocytosis was 10-20% and creatine-phosphokinase levels were raised. Electrophysiological data were consistent with lower motor neurone dysfunction. Muscle biopsy revealed changes typical of neurogenic atrophy. Nerve biopsy showed a severe loss of large myelinated axons. Electron microscopic examination was in favour of primary axonal damage affecting mainly myelinated fibers and only slightly unmyelinated fibers.
authors.affiliation: Service de Neurologie, Hôpital du Haut-Levêque, Pessac.
authors.forename: X
authors.initials: X
authors.lastname: Ferrer
authors.forename: J
authors.initials: J
authors.lastname: Julien
authors.forename: C
authors.initials: C
authors.lastname: Vital
authors.forename: A
authors.initials: A
authors.lastname: Lagueny
authors.forename: F
authors.initials: F
authors.lastname: Tison
mesh_terms: D000050:Acanthocytes; D000328:Adult; D002819:Chorea / Q000097:blood* / Q000201:enzymology / Q000473:pathology; D003402:Creatine Kinase / Q000097:blood; D006801:Humans; D008297:Male; D009420:Nervous System / Q000473:pathology
chemical_list: D003402:Creatine Kinase
vernacular_title: La chorée-acanthocytose.